Parents not told about gene risks

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The accidental discovery that five babies in a research study are the carriers of a gene for cystic fibrosis has unleashed a storm over how much genetic information should be revealed to families.

Bob Williamson, the director of Melbourne's Murdoch Children's Research Institute, where the research was carried out, said the parents deserved to be told of the finding because there was a risk their children's children would be born with the devastating disease.

But the families could not be contacted because the blood samples - stored on "Guthrie cards" after standard newborn heel-prick tests for a range of serious diseases - were analysed anonymously to protect their privacy. The heel-prick test is normally only used to verify whether a baby has cystic fibrosis.

Although the cystic fibrosis (CF) carrier gene was common, Professor Williamson said identifying it put scientists in a difficult situation. "I believe once you have such information, it's more important that you pass it on than that you create a situation where it's impossible to pass it on," he said. The researchers had "lost the opportunity to tell people they were at risk of having a child with CF".

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But study leader Graeme Barnes defended the research. Responding in the Journal of Paediatrics and Child Health, he wrote: "We felt it was an ethically sound proposal, since there did not appear to be a potential for harm to any of the children or parents whose (samples) were used, while the study provided the potential to answer a question of importance to public health."

Dr Barnes was attempting to find out whether children who developed the bowel complication intussusception were more likely to carry the CF gene than others. Intussusception can occur as a rare side-effect of immunising against rotavirus. But the study found the CF gene made no difference to intussusception rates.

Melbourne's Royal Children's Hospital, where the babies' samples were held, could not have afforded to contact the 300 babies' parents, "and if that course had been deemed necessary, the study would not have been performed", Dr Barnes wrote.

Bridget Wilcken, who runs NSW's newborn blood-screening program, said it was unjustified to contact parents about an abnormality that might never cause a disease.

In NSW, doctors had received approval to look for genetic markers of a fat metabolism disorder. They might have found a baby with the disease but did not yet have symptoms. It was decided the parents should be contacted because, "the baby could be quite well until it died suddenly", Associate Professor Wilcken said. For unrelated reasons, the study did not proceed.